A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734907



Internal ID9969237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100972198..100972399hg38UCSC Ensembl
Outerchr7:100615479..100615680hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6841544, essv6715835, essv6778527, essv6930797, essv6694546, essv6790850, essv6957549, essv6911640
SamplesSSM084, SSM026, SSM067, SSM020, SSM015, SSM037, SSM070, SSM043
Known GenesMUC12
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2734907
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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